Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

New Pathology TN > VII - Genetic and Pediatric Diseases > Flashcards

VII - Genetic and Pediatric Diseases Flashcards

1
Q

Hereditary disorders(TOPNOTCH)

A

These disorders are derived from one’s parents, transmitted through gametes through the generations, and are therefore familial.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Congenital(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

A

This term literally means “present at birth”.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

A

This term refers to permanent changes in the DNA.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Missense mutation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

A

This type of mutation results from the substitution of a single nucleotide base by a different base, resulting in the replacement of one amino acid by another.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Nonsense mutation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

A

This type of mutation results in the replacement of one amino acid by a stop codon, resulting in chain termination.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Point mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

A

Missense, nonsense and silent mutations are examples of ________ mutations, wherein only one base pair is replaced.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Frameshift mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

A

This type of mutation occur when the insertion or deletion of one or two bse pairs alters the reading frame of the DNA strand.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Trinucleotide repeat mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

A

These mutations are characterized by amplification of a sequence of three nucleotides.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Fragile X Syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227

A

Disease characterized by CGG trinucleotide repeats.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Huntington’s disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

A

This is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

CAG trinucleotide repeats(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

A

Genetic mutation in Huntington’s disease?

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Myotonic Dystrophy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229

A

This disorder is a chronic, slowly progressing inherited genetic disorder characterized by muscle wasting, cataracts, heart conduction defects, endocrine changes and myotonia.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

CTG Trinucleotide repeats(TOPNOTCH)

A

Genetic mutation found in myotonic dystrophy?

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Silent mutation(TOPNOTCH)

A

A point mutation wherein a single base pair is replaced but codes for the same amino acid, therefore has no effect on the functioning of the protein.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Transition(TOPNOTCH)

A

An example of point mutation wherein a purine base is replaced by another purine base or a pyrimidine base is replaced by another pyrimidine base.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Transversion (V - Valiktad) (TOPNOTCH)

A

A point mutation wherein a purine is replaced by a pyrimidine or vice versa.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Mendelian Disorders(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

A

Diseases caused by single gene defects are called?

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Codominance(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

A

A condition wherein both dominant and recessive alleles of a gene pair may be fully expressed in the heterozygote.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Polymorphism(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

A

The presence of many allelic forms of a single gene is called _______.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Pleiotropy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

A

This occurs when one gene influences or leads to multiple phenotypic traits.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Genetic heterogeneity Note: compare with pleiotropy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228

A

A phenomenon wherein a single phenotype or genetic disorder may be caused by mutations of several genetic loci or allele.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Autosomal dominant (AD)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229 *SEE SLIDE 7.1

A

A transmission pattern of inheritance which is manifested in the heterozygous state, wherein at least one parent of an index case is usually affected, both males and females are affected and both can transmit the condition.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Autosomal recessive(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229 *SEE SLIDE 7.1

A

This pattern of inheritance occur when BOTH of the alleles at a given gene locus are mutants, wherein the parents are not affected, but offspring have 1 in 4 chance (25%) of being affected.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

X-linked disorders(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229 *SEE SLIDE 7.2

A

Pattern of inheritance wherein the disorder is transmitted by heterozygous female carriers only to 50% of the sons. An affected male does not transmit the disorder to sons but all daughters are carriers.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Marfan Syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230

A

An autosomal dominant disorder of connective tissues characterized by abnormally long legs, arms and fingers, joint hyperextensibility, pectus excavatum, lens subluxation (Ectopia lentis) and increased risk of aortic dissection. *SEE SLIDE 7.3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Fibrillin 1(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230

A

Integral component of elastic fibers defective in Marfan Syndrome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

FBN1 gene (chromosome 15q21)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230

A

Fibrillin 1 is encoded by what gene?

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Ehlers-Danlos SyndromesThere are 6 variants to Ehlers-Danlos (nice to know)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.231

A

A collection of disorders caused by defects in collagen synthesis or structure, characterized by hyperextensible skin and joint hypermobility, rupture of internal organs and poor wound healing. *SEE SLIDE 7.4

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Phenylketonuria (PKU)(TOPNOTCH)

A

This autosomal recessive inborn error of metabolism is characterized by inability to convert phenylalanine to tyrosine, strong mousy or musty odor of urine and sweat, decreased pigmentation of hair and skin, eczema, seizures and mental retardation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Familial hypercholesterolemia(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.232

A

This autosomal dominant disorder is caused by a mutation in the gene that specifies the receptor for LDL, impairing the intracellular transport and catabolism of LDL.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Phenylalanine hydroxylase (PAH)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.234 *SEE SLIDE 7.5

A

Enzyme deficient in classic PKU.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Galactosemia(TOPNOTCH)

A

An autosomal recessive disorder of galactose metabolism characterized by jaundice, liver damage, cataracts, neural damage, vomiting and diarrhea.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Dihydrobiopteridine reductase (DHPR)Enzyme responsible for the reduction of Dihydrobiopterin (BH2) to Tetrahydrobiopterin (BH4).(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.234

A

Deficiency of this enzyme can also cause symptoms of phenylketonuria due to decreased synthesis of a cofactor in the conversion of phenylalanine to tyrosine.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Galactose-1-phosphate uridyltransferase(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.235

A

Enzyme deficient in galactosemia.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Gaucher disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

A

Lysosomal storage disease due to deficiency of glucosylceramidase.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Tay-Sachs disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

A

Lysosomal storage disease due to deficiency of B-Hexosaminidase A.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Fabry disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

A

Lysosomal storage disease due to deficiency of a-Galactosidase A.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Niemann-Pick disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

A

Lysosomal storage disease due to deficiency of Sphingomyelinase.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Tay-Sachs disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.236

A

Lysosomal storage disease common among Ashkenazi Jews characterized by motor weakness, mental retardation, blindness, neurologic dysfunction and death.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Gaucher disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.238

A

Lysosomal storage disease characterized by accumulation of glucosylceramide in mononuclear phagocytic cells, which enlarge, forming “wrinkled tissue paper” cytoplasmic appearance. *SEE SLIDE 7.6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Gaucher cell(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.238

A

What do you call the pathognomonic cell characterized by “wrinkled tissue paper” cytoplasmic appearance. *SEE SLIDE 7.6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Mucopolysaccharidoses(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.238

A

These disorders result from the accumulation of mucopolysaccharides in many tissues including the liver, spleen, heart, blood vessels, brain, cornea and joints. Affected patients have coarse facial features.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Hurler syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.239

A

Mucopolysaccharidosis characterized by corneal clouding, coronary arterial and valvular depositions, which occurs due to deficiency of a-L-iduronidase, leading to accumulation of dermatan and heparan sulfate.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Hunter syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.239

A

An X-linked mucopolysaccharidosis which is due to a deficiency of L-iduronate sulfatase. Symptoms are similar to Hurler syndrome, but without corneal clouding.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

von Gierke’s disease (Type I)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

A

Glycogen storage disease characterized by hepatomegaly, renomegaly, hypoglycemia, hyperlipidemia and hyperuricemia, leading to gout and skin xanthomas.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Glucose-6-phosphatase(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

A

von Gierke’s disease is due to a deficiency of what enzyme?

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

McArdle syndrome (type V)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

A

Glycogen storage disease characterized by accumulation of glycogen in skeletal muscles leading to painful cramps during strenuous exercise and myoglobinuria.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Pompe disease (type II)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

A

Glycogen storage disease characterized by mild hepatomegaly, cardiomegaly, muscle hypotonia, and may lead to cardiorespiratory failure.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Muscle phosphorylase(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.240

A

Enzyme deficient in McArdle syndrome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Cytogenetic disorders(TOPNOTCH)

A

These disorders may result from alterations in the number or structure of chromosomes and may affect autosomes or sex chromosomes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Cytogenetic disorders(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.241

A

These disorders may result from alterations in the number or structure of chromosomes and may affect autosomes or sex chromosomes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

Mosaicism(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.242

A

It is a term used to describe the presence of two or more populations of cells in the same individual.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Monosomy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

A

This refers to a lack of one chromosome of the normal complement (e.g. XO).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

Trisomy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

A

This refers to the presence of three copies of a particular chromosome, instead of two.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Nondisjunction(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.243 *SEE SLIDE 7.7

A

This mechanism occurs due to the failure of chromosome pairs to separate properly during meiosis stage 1 or 2.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Translocation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.243 *SEE SLIDE 7.7

A

This mechanism implies transfer of a part of one chromosome to another chromosome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Deletion(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.243

A

This mechanism involves loss of a portion of a chromosome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

Down syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

A

Patients with this syndrome have severe mental retardation, flat facial profile, epicanthic folds, cardiac malformations, increased risk of leukemia, and premature development of Alzheimer’s disease.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Trisomy 21(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

A

Down syndrome is also called _________

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Edwards syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

A

Trisomy 18 is also called ________ syndrome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

Patau syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.244

A

Trisomy 13 is also called _________ syndrome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Edwards syndrome / trisomy 18(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

A

Syndrome characterized by a prominent occiput, low set ears, micrognathia, rocker-bottom feet, renal malformation, mental retardation and heart defects.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Patau syndrome/Trisomy 13(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

A

Syndrome characterized by mental retardation, microcephaly, micropthalmia, polydactyly, cleft lip and palate, cardiac and renal defects, umbillical hernia and rocker-bottom feet.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

DiGeorge syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

A

Syndrome characterized by thymic hypoplasia with diminished T-cell immunity and parathyroid hypoplasia with hypocalcemia.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

Velocardiofacial syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

A

Syndrome characterized by congenital heart disease affecting outflow tracts, facial dysmorphism and developmental delay.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

22q11.2Remember mnemonic CATCH22(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.245

A

Deletion of genes from this chromosome gives rise to DiGeorge and velocardiofacial syndromes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

“Long arm” of chromosome 22.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

A

The q from 22q11.2 refers to ________.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

Klinefelter syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

A

Syndrome defined as male hypogonadism that develops when there are at least two X chromosomes and one or more Y chromosomes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

Klinefelter syndrome (TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246 *SEE SLIDE 7.8

A

Syndrome manifested by a eunochoid body habitus, reduced facial, body and pubic hair, gynecomastia, testicular atrophy, decreased serum testorerone and increased urinary gonadotropin levels. It is the most common cause of hypogonadism in males.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

47XXY(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.246

A

Most common chromosomal derangement in Klinefelter syndrome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

Turner syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.247 *SEE SLIDE 7.8

A

Syndrome which results from the partial or complete monosomy of the short arm of the X chromosome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

Maternal inheritance(TOPNOTCH)

A

Inheritance associated with mitochondrial DNA.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

Leber hereditary optic neuropathy(TOPNOTCH)

A

Neurodegenerative disease which manifests as progressive bilateral loss of central vision that leads to blindness. This is the prototypical disorder of mutations in mitochondrial genes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

Maternal inheritance(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.247

A

Inheritance associated with mitochondrial DNA.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

Genomic imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.252

A

An epigenetic process wherein certain genes are differentially “inactivated” during paternal and maternal gametogenesis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

Maternal imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

A

This refers to transcriptional silencing of the maternal allele.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

Paternal imprinting(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251

A

Refers to the transcriptional silencing of the paternal allele.

78
Q

Prader-Willi syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251 *SEE SLIDE 7.9

A

Syndrome characterized by mental retardation, short stature, hypotonia, obesity, small hands and feet, and hypogonadism. Paternal imprinting.

79
Q

Angelman syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.251 *SEE SLIDE 7.9

A

Syndrome manifested as mental retardation, ataxic gait, seizures and inappropriate laughter. Also called the “happy puppet syndrome”. Maternal imprinting.

80
Q

Malformations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

A

These represent primary errors of morphogenesis due to an intrinsically abnormal developmental process. *SEE SLIDE 7.10

81
Q

Disruptions(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

A

These result from secondary destruction of an organ or body region that was previously normal in development, due to an extrinsic disturbance in morphogenesis. *SEE SLIDE 7.11

82
Q

Deformations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

A

These are due to generalized compression of the growing fetus by abnormal biomechanical forces, for example uterine constraint. *SEE SLIDE 7.12

83
Q

Sequence(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.254

A

This refers to multiple congenital anomalies that result from secondary effects of a single localized aberration in organogenesis. The initiating event may be a malformation, deformation or disruption.

84
Q

Malformation syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.253

A

This refers to the presence of several defects that cannot be explained on the basis of a single localizing initiating error in morphogenesis.

85
Q

ToxoplasmaTreponema pallidumRubellaCytomeglovirusHerpesvirus(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.256

A

Elements of the TORCH complex.

86
Q

Congenital anomalies(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.253

A

Most common cause of neonatal mortality.

87
Q

Prematurity(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257

A

Second most common cause of neonatal mortality.

88
Q

Neonatal Respiratory Distress Syndrome / Hyaline Membrane Disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257

A

Lungs of infants with this disease are normal size but are heavy and relatively airless. They have a mottled purple color, with poorly developed atelectatic alveoli.

89
Q

Hyaline Membrane Disease / Neonatal RDS(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.257

A

Characteristic eosinophilic membranes line the respiratory bronchioles, alveolar ducts and random alveoli, which contain necrotic epithelial cells admixed with extravasated plasma proteins. *SEE SLIDE 7.13

90
Q

Retrolental fibroplasia / retinopathy of prematurityBronchopulmonary dysplasia(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

A

Two well known complications of high concentration ventilator administered oxygen in infants suffering from RDS.

91
Q

Neovascularization or retinal vessel proliferation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

A

Characteristic lesion in the retina of infants suffering from retrolental fibroplasia?

92
Q

Dipalmitoylphosphatidylcholine (DPPC) ~40%(TOPNOTCH)

A

Main component of pulmonary surfactant.

93
Q

Alveolar hypoplasia or a decrease in the number of mature alveoli.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

A

Characteristic abnormality in bronchopulmonary dysplasia?

94
Q

Insufficient pulmonary surfactant(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

A

What is the fundamental abnormality in neonatal RDS?

95
Q

Necrotizing enterocolitis (TOPNOTCH)Robbins Basic Pathology, 8th Ed p.258

A

This condition occurs more commonly in very-low-birth-weight infants, as a result of intestinal ischemia, bacterial colonization of gut and formula milk feeding.

96
Q

Presence of submucosal gas bubbles, transmural coagulative necrosis, ulceration and bacterial colonization.(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.259

A

Microscopic features of NEC.

97
Q

Sudden Infant Death Syndrome / SIDS(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.260

A

Defined as the sudden death of an infant under 1 year of age which remains unexplained after a thorough investigation.

98
Q

Sudden Infant Death Syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.260

A

Characteristic findings include multiple petechiae of the thymus, visceral and parietal pleura and epicardium, congested lungs with vascular engorgement with or without pulmonary edema. There is also hypoplasia of the arcuate nucleus.

99
Q

Immune Hydrops(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.261

A

Results from antibody-induced hemolytic disease in the newborn that is caused by blood group incompatibility between mother and fetus, leading to edema fluid accumulation.

100
Q

Parvovirus B19(TOPNOTCH)

A

Erythroid precursors with large homogenous, intranuclear inclusions and a surrounding peripheral rim of residual chromatin can be seen in the bone marrow aspirate of an infant infected with this virus. This leads to development of non-immune hydrops.

101
Q

Cystic hygroma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.261

A

Isolated postnuchal fluid accumulation in fetuses with hydrops.

102
Q

Hydrops fetalis(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.261

A

A lethal condition characterized by generalized edema of the fetus.

103
Q

Erythroblastosis fetalis(TOPNOTCH)

A

Increased hematopoietic activity leading to the presence of large number of immature red cells, including reticulocytes, normoblasts and erythroblasts. Characteristic finding in fetal anemia-associated hydrops.

104
Q

Abnormal CFTR (CF transmembrane conductance regulator). Most severe mutation involves deletion of nucleotides for phenylalanine (F508 position). (TOPNOTCH)Robbins Basic Pathology, 8th Ed p.262

A

Primary gene defect in cystic fibrosis.

105
Q

Cystic fibrosis(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.262

A

Lungs with extensive mucous plugging and dilated tracheobronchial tree. Pancreatic ducts dilated and plugged with eosinophilic mucin, atrophic parenchymal glands replaced by fibrous tissue. Azoospermia, infertility, and bilateral absence of the vas deferens in males are some of the features of this disease.

106
Q

S. aureusH. InfluenzaeP. aeruginosa(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.266

A

Patients with cystic fibrosis are prone to developing infections caused by these three organisms.

107
Q

Persistently elevated sweat chloride concentration(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

A

How is cystic fibrosis diagnosed?

108
Q

Hemangioma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

A

Most common tumors of infancy.

109
Q

Heterotopia or choristoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

A

Microscopically normal cells or tissues that are present in abnormal locations.

110
Q

von Hippel-Lindau Sturge-Weber syndromes(TOPNOTCH)

A

Port wine stains are associted with these syndromes. (2) *SEE SLIDE 7.14

111
Q

Hamartoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

A

This refers to an excessive but focal overgrowth of cells and tissues native to the organ in which it occurs.

112
Q

Port wine stains(Large hemangiomas)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.267

A

Large, flat to elevated, irregular, red-blue masses in the skin. *SEE SLIDE 7.14

113
Q

Lymphangiomas(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.268

A

These represent the lymphatic counterpart of hemangiomas characterized as cystic and cavernous spaces lined by endothelial cells and surrounded by lymphoid aggregates,usually containing pale fluid.

114
Q

Homer-Wright pseudorosettes. Tumor cells are concentrically arranged around a neuropil (eosinophilic fibrillary material that corresponds to neuritic processes of neuroblasts) (TOPNOTCH) Robbins Basic Pathology, 9th ed., p 259 *SEE SLIDE 7.15

A

What do you call the rosettes found in neuroblastomas?

115
Q

Sacrococcygeal teratomas(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.268

A

Most common germ cell tumors of childhood,associated with meningocoele and spina bifida.

116
Q

Neuroblastomas(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.269

A

Tumors arising from neural crest cells. Composed of small, primitive-appearing cells with dark nuclei, scant cytoplasm, and poorly defined cell borders growing in solid sheets within a finely fibrillar matrix (neuropil). *SEE SLIDE 7.16

117
Q

Urinary vanillylmandelic acid and homovanillic acid (VMA/HVA)(TOPNOTCH)

A

This is used in the screening of patients with neuroblastoma.

118
Q

Ganglioneuroma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.270

A

Differentiated lesions containing more large cells with vesicular nuclei and abundant eoinophilic cytoplasm, in the absence of neuroblasts, usually accompanied by mature spindle shaped Schwann cells.

119
Q

“Blueberry muffin baby”(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.270

A

Disseminated neuroblastoma with multiple cuteaneous metastases with deep blue discoloration to the skin.

120
Q

Retinoblastoma(Differentiate with neuroblastoma)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271

A

This tumor is composed of small, round cells with large hyperchromatic nuclei and scant cytoplasm, with characteristic structures consisting of clusters of cuboidal or short columnar cells arranged around a CENTRAL LUMEN. The nuclei are displaced away from the lumen, which appears to have a limiting membrane. *SEE SLIDE 7.17

121
Q

Flexner-Wintersteiner rosettes. (TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271

A

Rosettes in retinoblastoma are called _______. *SEE SLIDE 7.17

122
Q

Retinoblastoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271

A

Clinicial findings include poor vision, strabismus, whitish hue to the pupils (“cat’s eye reflex”), pain and tenderness to the eye. *SEE SLIDE 7.18

123
Q

Wilm’s tumor / Nephroblastoma(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.271

A

Most common primary tumor of the kidney in children.

124
Q

Wilm’s tumorAniridiaGenital abnormalitiesMental retardation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272

A

Components of the WAGR syndrome.

125
Q

Wilm’s tumor(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272

A

Presents grossly as a large, solitary, well-circumscribed mass. On cut-section, tumor is soft, homogenous, and tan to gray, with occasional foci of hemorrhage, cystic degeneration and necrosis.

126
Q

Wilm’s tumor(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272

A

Microscopically, a combination of blastemal, stromal and epithelial cell types is observed. (Triphasic combination) Blastemal components described as sheets of small blue cells with few distinctive features. Stromal cells are fibrocytic or myxoid in nature. Epithelial cells take the form of abortive tubules or glomeruli. *SEE SLIDE 7.19

127
Q

WAGR syndrome and Denys-Drash syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.272

A

Associated with inactivation of the WT1 gene of chromosome 11p13.

128
Q

Hexosaminidase A. (Case of Tay-Sachs Disease) (TOPNOTCH)

A

Patient presents with mental retardation, motor incoordination, and blindness. Ophthalmologic exam showeed cherry-red spots on the macula. Brain showed neurons ballooned with cytoplasmic vacuoles. What is the enzyme deficiency? *SEE SLIDE 7.20

129
Q

Autosomal dominant disorder. With this type, some patient do not have affected parents, has variations in penetrance and expressivity, age at onset is delayed. (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 140

A

An 18 y/o male was recently diagnosed with a genetic disorder. His parents do not manifest the disease, but one of his parent carries the gene with phenotypic expression. Some of his relatives manifest the same disease but with different presentation. What type of Mendelian disorder does the patient most likely have?

130
Q

True. Hemophilia is an X-linked disorder. (TOPNOTCH)

A

True or False. Male patient with hemophilia does not transmit the disorder to his sons, but all daughters are carriers.

131
Q

False. X-linked disorders are transmitted by heterozygous females to their sons, who manifest the disease. (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 142

A

True or False. Female hemophilia carrier will transmit the disease to half her sons and half her daughter.

132
Q

False (TOPNOTCH)

A

True or False. Female hemophilia carrier will manifest with decrease Factor VIII.

133
Q

True (TOPNOTCH)

A

True or False. In female hemophilia carrier, only one of the X chromosome shows abnormality.

134
Q

True (TOPNOTCH)

A

True or False. In X-linked disorders, female carriers are usually protected because of random inactivation of one X chromosome.

135
Q

False (TOPNOTCH)

A

True or False. In X-linked disorders, heterozygous female carrier will never manifest the disease.

136
Q

Skeletal abnormalities. (case of Marfan Syndrome) (TOPNOTCH)

A

A 26 y/o male was referred to a cardiologist due to presence of murmur at the aortic area. On history, patient suffered from severe myopia at the age of 6. His development was normal except that he was taller than the rest of his family members and friends. Examination of abdomen showed visible pulsation above the umbilicus. The most striking feature in this syndrome is:

137
Q

Cardiovascular lesions (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 145

A

The most life-threatening feature of Marfan syndrome

138
Q

Mitral valve prolapse and dilation of ascending aorta (TOPNOTCH) Robbins Basic Pathology, 9th ed, p. 145

A

The 2 most common lesions of Marfan Syndrome

139
Q

Impared transport of LDL into the cells (Case of Familial Hypercholesterolemia) (TOPNOTCH)

A

A 4 y/o male presented with cutaneous xanthomas on the extensor surfaces of his arms, knees, and elbow since he was 1 year old. He was found to have serum cholesterol greater than 1000 mg/dl and triglyceride level of 170 mg/dl. Both parents had high cholesterol levels. What is the cause of hypercholesterolemia in this condition?

140
Q

Sphingomyelinase (case of Niemann-Pick Disease Type A) (TOPNOTCH)

A

A 6 mo old infant presented with failure to thrive, vomiting, fever, and hepatosplenomegaly. Progressive deterioration of the infant led to death. Autopsy finding showed lipid laden phagocytic foam cells widely distributed in the spleen, liver, lymph nodes, GIT and lungs. Tissue cells are enlarged, with innumerable vacuoles staining for fat, and lysosome contain concentric lamellated myelin figures. The patient is deficient of what enzyme?

141
Q

Niemann-Pick Disease (TOPNOTCH)

A

A 1 y/o infant succumbed to death. Autopsy finding showed shrunken gyri and widened sulci. There is vacuolation and ballooning of neurons noted. Cells are enlarged with innumerable small vacuoles of uniform size, imparting foaminess to the cytoplasm. This is a case of:

142
Q

Gaucher disease (TOPNOTCH)

A

Presents with fractures, bone pain and thrombocytopenia. Morphologic findings of distended phagocytic cells and have fibrillary type of cytoplasm, intensely positive for PAS staining.

143
Q

Turner syndrome (TOPNOTCH)

A

A 21 y/o female of short stature presented with primary amenorrhea, shield-shaped chest, “thick neck”, and absence of secondary female characteristics. Estrogen level were decreased, while FSH and LH are increased. What is the most likely diagnosis? *SEE SLIDE 7.8

144
Q

Down Syndrome(TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 161

A

The most common chromosomal disorder

145
Q

Down Syndrome(TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 161

A

The most common genetic cause of mental retardation.

146
Q

Meiotic nondisjunction (TOPNOTCH)

A

Most common pathogenesis of Trisomy 21

147
Q

Endocardial cushion defects(TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 163

A

Most common congenital heart defects in Trisomy 21

148
Q

Because of thymic hypoplasia (TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 163

A

Why are patients with DiGeorge syndrome has T-cell immunodeficiency?

149
Q

Klinefelter syndrome (TOPNOTCH) *SEE SLIDE 7.8

A

A 14 y/o male presented with gynecomastia and small testes. He was noted to have difficulties in school when he was 8. He was tall for his age. You would suspect:

150
Q

47,XXY(TOPNOTCH)

A

Classic karyotype patttern of Klinefelter syndrome

151
Q

Turner syndrome (TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 166

A

Single most important cause of primary amenorrhea

152
Q

Cardiovascular abnormalities (TOPNOTCH)Robbins Basic Pathology, 9th ed., p. 166

A

Most important cause of increased mortality in children with Turner syndrome.

153
Q

Fragile X Syndrome (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 169

A

Patient presents with mental retardation, long face with large mandible, large everted ears, and large testicles. *SEE SLIDE 7.21. The most likely diagnosis is:

154
Q

Macro-orchidism(TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 169

A

Most distinctive feature of Fragile X syndrome

155
Q

Alcohol (TOPNOTCH)

A

The neonate was noted to have microcephaly, short palpebral fissure, maxillary hypoplasia, growth retardation, and psychomotor disturbances. The mother denies intake of drugs during pregnancy. SEE SLIDE 7.22. The most likely cause

156
Q

Alkaptonuria (TOPNOTCH)

A

Deficiency in homogentisic oxidase results in this condition which manifests black discoloration of the urine

157
Q

Hyaline Membrane Disease (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 457

A

Most common cause of respiratory distress in the newborn

158
Q

Valproic acid (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 456

A

This teratogenic drug disrupts expression of homeobox (HOX) proteins implicated in the patterning of limbs, vertebrae, and craniofacial structures.

159
Q

TORCH infections (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 457

A

Most commonly responsible for fetal growth restriction.

160
Q

Vascular diseases (chronic hypertension, preclampsia) (TOPNOTCH) Robbins Basic Pathology, 9th ed, p. 457

A

Most common maternal condition associated with SGA infants

161
Q

Pulmonary surfactant (Case of RDS) (TOPNOTCH)

A

A 28 week old male delivered via CS by a diabetiic mother presented with dyspnea and cyanosis. Fine rales are heard over both lung fields. CXR revealed uniform minute reticulogranular densities, producing a ground glass appearance. The fundamental defect in this condition is:

162
Q

Accidents (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 452

A

The most common cause of mortality in children ages 1-4 years old.

163
Q

Respiratory distress syndrome/Hyaline membrane disease (TOPNOTCH)

A

A 28 week old male dies 20 hours after birth. Autopsy findings showed a solid, airless, and reddish purple lungs with poorly developed alveoli. Necrotic cellular debris incorporated within eosinophilic hyaline membranes lines the respiratory bronchioles, alveolar ducts and alveoli. SEE SLIDE 7.13. The most likely cause of death of the neonae is:

164
Q

Necrotizing enterocolitis(TOPNOTCH)

A

Premature infant, bottle-fed, developed bloody stool, abdominal distention. Abdominal radiograph showed pneumotis intestinalis. Diagnosis:

165
Q

Necrotizing enterocolitis(TOPNOTCH)

A

Morphology: intestinal segment is distended, friable and congested, with transmural coagulative necrosis, ulceration, bacterial colonization, and submucosal bubbles.

166
Q

Group B streptococcus(TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 460

A

Most common cause of early-onset neonatal sepsis and early-onset bacterial meningitis

167
Q

CNS damage -kernicterus (TOPNOTCH) Robbins Basic Pathology, 9th ed., p. 463

A

The most serious threat of fetal hydrops

168
Q

Adrenal medulla (40%). Other sites include abdomen (25%) and posterior mediastinum (15%) (TOPNOTCH) Robbins Basic Pathology, 9th ed., p 259

A

Most common site of neuroblastoma

169
Q

Wilm’s tumor (TOPNOTCH)

A

Presents with a large abdominal mass crossing the midline, hematuria, intestinal obstruction, and hypertension.

170
Q

fibroblasts (TOPNOTCH)Robbins Basic Pathology, 8th Ed, p 230

A

A 22 year old male consults an ophthalmologist for sudden blindness on the right. He is found to have lens subluxation. He is unusually tall and lean, with long limbs and fingers. These findings are due to abnormalities in fibrillin 1, which is secreted by (A) megakaryocytes (B) fibroblasts (C) histiocytes (D) fibroclasts

171
Q

enlarged, with a “wrinkled tissue paper” cytoplasm (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp237-238 *SEE SLIDE 7.6

A

A lysosomal storage disease with a mutation in the gene that encodes glucosylceramidase presents with an accumulation of glucosylceramide in mononuclear phagocytic cells in the liver, spleen, and marrow. These pathognomonic cells are (A) enlarged, with a “wrinkled tissue paper” cytoplasm (B) epithelioid, with “slipper-shaped” nuclei (C) multinucleated, with 8 to 20 nuclei (D) studded with reddish brown cytoplasmic granules

172
Q

meiotic nondisjunction (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 244

A

A baby is born with epicanthic folds, flat facial profile, simian crease, and a gap between the first and second toe. Auscultation reveals a holosystolic murmur. The clinical findings are due to an extra chromosome that is most commonly caused by (A) meiotic duplication (B) meiotic nondisjunction (C) fertilization by two spermatozoa (D) translocation

173
Q

a deletion in chromosome 22 (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 245-246

A

A premature female neonate admitted at the PICU develops sepsis, with blood cultures showing growth of Candida sp. She is also found to be persistently hypocalcemic. She dies on her 7th day. On autopsy, she was found to have fungal endocarditis and thymic hypoplasia. She most likely has (A) an extra chromosome 22 (B) a deletion in chromosome 22 (C) a 9:22 chromosomal translocation (D) a duplication in chromosome 22

174
Q

Trisomy 13 (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 245.

A

A stillborn fetus is found to have polydactyly, an umbilical hernia, and cleft lip and palate. Autopsy showed a ventral septal defect, renal dysplasia, and holoprosencephaly. Karyotyping will likely show (A) Monosomy X (B) Deletion in chromosome 5 (C) Trisomy 13 (D) Trisomy 18

175
Q

mosaicism or partial monosomy produces a milder form (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp247-248

A

A 19 year old female consults a gynecologist for primary amenorrhea. Apart from her short stature, there are no other unusual clinical findings. Why must Turner Syndrome be ruled out? (A) mosaicism or partial monosomy may produce a mild form of the syndrome (B) 45,X abnormalities manifest in only half of females by the age of 18 (C) when combined with Fragile X, the typical features such as neck webbing and cubitus valgus are masked (D) supplementation with folate during gestation masks the typical features of neck webbing and cubitus valgus

176
Q

renal agenesis (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 253-254

A

A stillborn male fetus delivered to a 41 year old G7P7 is found to have flattened facies and clubbed feet. Autopsy showed renal agenesis and pulmonary hypoplasia. What is the main culprit of the findings in the fetus? (A) maternal age (B) multiparity (C) renal agenesis (D) pulmonary hypoplasia

177
Q

Group B Streptococcus (TOPNOTCH)Robbins Basic Pathology, 8th Ed p. 256

A

A G3P3 mother has premature rupture of membranes at 35 weeks age of gestation, and delivers a live baby boy with poor APGAR scores. The obstetrician delivered a placenta with dull-looking membranes, which showed chorioamnionitis on histopathology. Culture of which organism from the placental tissue suggests an transcervical origin of infection? (A) Group B Streptococcus (B) Toxoplasma (C) Plasmodium (D) Rubella

178
Q

eosinophilic material lining the alveolar walls (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 257-258 *SEE SLIDE 7.13

A

A G1P1 preeclamptic mother delivers a live baby boy at 27 weeks age of gestation. The baby develops respiratory distress a few minutes later and is admitted at the PICU. He dies the next day, and is sent for autopsy. Which of the following supports respiratory distress syndrome of the newborn? (A) thickened alveolar septa with lymphocytic infiltrates (B) alveolar spaces filled with neutrophils (C) eosinophilic material lining the alveolar walls (D) hemosiderin laden macrophages in the alveolar spaces

179
Q

coagulative necrosis of the mucosa and muscularis (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 259

A

A premature male neonate who was delivered at 33 weeks AOG and admitted at the PICU develops abdominal distention, bloody stools, and hypotension. An abdominal radiograph shows gas within the intestinal wall. What is the expected histologic findings of the involved intestine? (A) coagulative necrosis of the mucosa and muscularis (B) arteriovenous fistulas in the submucosa (C) melanosis of the mucosa (D) crypt abscesses and noncaseating granulomas

180
Q

multiple petechiae on the thymus and visceral surfaces (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 260

A

What is the most common autopsy finding in sudden infant death syndrome? (A) patent ductus arteriosus (B) multiple petechiae in the thymus and pleural surfaces (C) bilateral adrenal hemorrhage (D) flattening of gyri in the cerebral cortex

181
Q

it infects erythroid precursors, causing anemia (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 262

A

How does parvovirus B19 infection cause fetal hydrops? (A) it causes a chronic myocarditis leading to heart failure (B) it infects the lymphatic ducts causing peripheral fluid accumulation (C) it causes placental villi atrophy, exposing the fetal circulation to maternal antibodies (D) it infects erythroid precursors, causing anemia

182
Q

neural crest (TOPNOTCH)Robbins Basic Pathology, 8th Ed pp 269-270

A

A 4 month old infant with abdominal enlargement presents with multiple bluish-gray subcutaneous nodules. Workup showed a 10 cm mass in the paravertebral region. Biopsy of the nodules showed small round cells with dark nuclei scanty cytoplasm, some forming rosettes arranged in a finely fibrillar matrix. SEE SLIDE 7.15. Immunohistochemical studies showed the cells to be positive for neuron specific enolase and negative for leucocyte common antigen. These tumor cells are derived from (A) antigen presenting cells in the dermis (B) neural crest (C) nephrogenic rests (D) lymphoid precursors

183
Q

osteosarcoma (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 271

A

A 2 year old male is noticed to have a whitish pupil on photographs. Workup showed a tumor in the posterior chamber. The eye is enucleated, and the tumor shows sheets of small round cells with hyperchromatic nuclei and scant cytoplasm. Occasional clustering around central lumens are seen. On further history, a cousin also had a similar tumor and died. The patient has an increased risk of developing which tumour later in life: (A) hepatoblastoma (B) pheochromocytoma (C) osteosarcoma (D) Wilms tumour

184
Q

nephrogenic rests (TOPNOTCH)Robbins Basic Pathology, 8th Ed p 272

A

A 4 year old female undergoes left nephrectomy for Wilms tumor. Which of the following findings in the nephrectomy specimen is associated with an increased risk of developing the same tumor in the right kidney? (A) nephrogenic rests (B) abortive tubules or glomeruli (C) extensive fibrosis (D) adipose tissue, cartilage, and osteoid

185
Q

Collagen (TOPNOTCH)

A

Marfan syndrome is to fibrillin as Ehlers-Danlos is to _____

186
Q

Spectrin, ankyrin, protein 4.1 (TOPNOTCH)Robbins Basic Pathology, 9th Ed p 219

A

Abnormal proteins in hereditary spherocytosis

187
Q

Adenosine deaminase (TOPNOTCH)Robbins Basic Pathology, 9th Ed p 219

A

Abnormal proteins in SCID

188
Q

Cystic medionecrosis (TOPNOTCH)Robbins Basic Pathology, 9th Ed p 221

A

Fragmentation of the elastic fibers in the tunica media of the aorta seen in (but not specific for) Marfan Syndrome

189
Q

ABSORBS. CFTR also augments sodium absorption by the ENaC channel. Hence, when it is defective as in cystic fibrosis, there is increased sodium chloride in the sweat test. (TOPNOTCH)Robbins Basic Pathology, 9th Ed p 224

A

ABSORBS or SECRETES: The CFTR protein in sweat glands ____ chloride

190
Q

SECRETES. Hence, when it is defective as in cystic fibrosis, there is dehydration of the linings. (TOPNOTCH)Robbins Basic Pathology, 9th Ed p 224

A

ABSORBS or SECRETES: The CFTR protein in the lungs and intestinal epithelium _____ chloride

191
Q

Burkholderia cepacia. (TOPNOTCH)Robbins Basic Pathology, 9th Ed p 225

A

While S. aureus, H. influenzae, and P. aeruginosa are the three most common organisms that cause lung infections in cystic fibrosis patients, this opportunistic bacterium can also infect patients and can cause fulminant illness called Cepacia Syndrome.

192
Q

Basal ganglia and brain stem. (TOPNOTCH)Robbins Basic Pathology, 9th Ed p 256

A

Parts of the brain prone to bilirubin deposition in hyperbilirubinemia

New Pathology TN (24 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions